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TCGCTCTCGGGAGGTAGATCTTGAC[C/T]GCCTCCGACGCCGATCCCGGGAGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142240 MIM: 607782 | ||||||||||||||||||||
Literature Links: |
HBQ1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
HBQ1 - hemoglobin subunit theta 1 | ||||||
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There are no transcripts associated with this gene. |
LUC7L - LUC7 like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001320226.1 | 2106 | Missense Mutation | CAG,CGG | Q,R 279 | NP_001307155.1 | |
NM_018032.4 | 2106 | Missense Mutation | CAG,CGG | Q,R 279 | NP_060502.1 | |
NM_201412.2 | 2106 | Missense Mutation | CAG,CGG | Q,R 279 | NP_958815.1 | |
XM_005255427.3 | 2106 | Missense Mutation | CAG,CGG | Q,R 226 | XP_005255484.1 | |
XM_005255429.3 | 2106 | Missense Mutation | CAG,CGG | Q,R 193 | XP_005255486.1 | |
XM_011522561.2 | 2106 | Missense Mutation | CAG,CGG | Q,R 246 | XP_011520863.1 | |
XM_017023437.1 | 2106 | Missense Mutation | CAG,CGG | Q,R 226 | XP_016878926.1 | |
XM_017023438.1 | 2106 | Missense Mutation | CAG,CGG | Q,R 193 | XP_016878927.1 | |
XM_017023439.1 | 2106 | Missense Mutation | CAG,CGG | Q,R 226 | XP_016878928.1 | |
XM_017023440.1 | 2106 | Missense Mutation | CAG,CGG | Q,R 193 | XP_016878929.1 |